WormBase Tree Display for Variation: WBVar00143469

WBVar00143469 Evidence: Paper_evidence: WBPaper00006395
  Name: Public_name: e767
    Other_name: CE28463:p.Gly246Asp
      F56C11.1.1:c.737G>A
      F56C11.1.2:c.737G>A
    HGVSg: CHROMOSOME_I:g.152861C>T
  Sequence_details: SMap: S_parent: Sequence: F56C11
    Flanking_sequences: tgaatgagaatccaggtcttctctcatttg tctgatcctcttccgttggcataactacaa
    Mapping_target: F56C11
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00006395
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004204
      WBStrain00026835
      WBStrain00027251
      WBStrain00028999
      WBStrain00057323
    Component_of_genotype: WBGenotype00000015
    Laboratory: CB
      SHU
    Status: Live
  Affects: Gene: WBGene00000253
    Transcript: F56C11.1.1 (12)
      F56C11.1.2 (12)
    Interactor: WBInteraction000537316
  Genetics: Interpolated_map_position: I -19.1473
    Mapping_data: In_2_point: 1
        2504
        3941
        4741
        7166
        7167
      In_multi_point: 390
        392
        979
        1241
        1294
        2207
        3200
      In_pos_neg_data: 6276
  Description: Phenotype: WBPhenotype:0000025 Paper_evidence: WBPaper00000031
          WBPaper00005747
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
          WBPerson2987
        Remark: Variable slight blistering in adult. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000070 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000072 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Small irregular shape in adult. Difficult to score (ES2) in adult and late larvae. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES2_Difficult_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000643 Paper_evidence: WBPaper00051549
        Curator_confirmed: WBPerson15345
      WBPhenotype:0000961 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001012 Paper_evidence: WBPaper00033445
        Curator_confirmed: WBPerson2021
        Remark: When exposed to yeast infection, bli-3 mutants produced less ROS than wild-type Paper_evidence: WBPaper00033445
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001013 Paper_evidence: WBPaper00033445
        Curator_confirmed: WBPerson2021
        Remark: The bli-3 mutant elicits the Dar disease earlier (after three days), in contrast to the wild type strain. Furthermore, yeast mutants that are unable to evoke the Dar response in wild type worms are competent to induce Dar in bli-3 mutant worms Paper_evidence: WBPaper00033445
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001517 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "abnormal branched annuli (lateral hypodermis)" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: Males are not Ram. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0001412 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00001328
    WBPaper00000031
    WBPaper00005747
    WBPaper00033445
    WBPaper00051549
    WBPaper00061175
    WBPaper00065026
    WBPaper00065304
    WBPaper00065993
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele